Gene Summary

Name:
protein phosphatase 2, regulatory subunit B', epsilon
Synonyms:
protein phosphatase 2A subunit beta,  4633401M22Rik,  B56beta

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Ppp2r5eem1(IMPC)Marc HOM Early adult 1.01×10-08
increased mean corpuscular volume Ppp2r5eem1(IMPC)Marc HOM Early adult 1.08×10-17
abnormal locomotor behavior Ppp2r5eem1(IMPC)Marc HOM Early adult 1.69×10-05
abnormal auditory brainstem response Ppp2r5eem1(IMPC)Marc HOM   Early adult 4.98×10-05
increased hematocrit Ppp2r5eem1(IMPC)Marc HOM Early adult 5.39×10-06
abnormal bone structure Ppp2r5eem1(IMPC)Marc HOM Early adult 3.53×10-05
hypoactivity Ppp2r5eem1(IMPC)Marc HOM   Early adult 2.20×10-06
decreased mean platelet volume Ppp2r5eem1(IMPC)Marc HOM Early adult 5.58×10-07
decreased bone mineral content Ppp2r5eem1(IMPC)Marc HOM Early adult 4.01×10-05
decreased mean corpuscular hemoglobin concentration Ppp2r5eem1(IMPC)Marc HOM Early adult 2.60×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ppp2r5e mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp2r5e by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Progressive sensorineural hearing impairment, Macrothrombocyto... OMIM:600208
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Methylcobalamin Deficiency Type Cble
Osteoporosis, Lethargy, Neutropenia, Pancytopenia, Hearing impairment, Increased mean corpuscular... ORPHA:2169
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Rickets, Reticulocytosis, Decreased mean corpuscular volume, Hepatosp... OMIM:611590
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Spastic ataxia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, ... OMIM:155100
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Anemia, Splenomegaly, Cognitive impairment, Hypersplenism, A... ORPHA:846
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Sensorineural hearing impairment, Gi... ORPHA:182050
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Diamond-Blackfan Anemia 7
Osteoporosis, Atresia of the external auditory canal, Neutropenia, Hearing impairment, Increased ... OMIM:612562
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies, High-... OMIM:153640
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Reduced bone mineral density, Irritability, Anemia, Splenome... ORPHA:848
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Dementia, Prelingual senso... ORPHA:52368
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Irritability, ... OMIM:618278
Beta-Thalassemia Intermedia
Osteoporosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid ... ORPHA:231222
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Lethargy, Pure red cell aplasi... ORPHA:124
Shwachman-Diamond Syndrome
Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Transient neutropenia, Pancytop... ORPHA:811
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Hearing impairment, Protruding ear, Optic nerve hypoplasia, Increased mean corp... ORPHA:261250
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Optic disc pallor, Anemia, Decreased mean corpuscular volume, Poiki... OMIM:616959
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... ORPHA:231226
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Beta-Thalassemia Major
Osteoporosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... ORPHA:231214
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Decreased mean corpuscu... ORPHA:300298
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Ataxia, Thrombocytopenia, Posteriorly rotated ears, Sensorineural... OMIM:616737
Adult Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Gait distur... ORPHA:206448
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Absent brainstem auditory responses, Vestibular ... ORPHA:3240
Lathosterolosis
Osteoporosis, Conductive hearing impairment, Increased mean platelet volume, Anisopoikilocytosis,... OMIM:607330
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio, Sensorineural hearing impairment OMIM:609057
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Craniosynostosis, Sensorineural hearing impairment, Conducti... OMIM:201050
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Limb ataxia, Unsteady gait, Sensorineural hearing impairment, Opt... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Gait ataxia, Autonomic bladder dysfunction, Dementia, Orthostatic hypotension... ORPHA:99027
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529808
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529799
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphology, Acute... ORPHA:3318
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Myelofibrosis, Anemia ORPHA:160
Trichohepatoenteric Syndrome 1
Cognitive impairment, Thrombocytosis, Increased mean platelet volume, Microtia OMIM:222470
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Ataxia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Cerebrotendinous Xanthomatosis
Osteoporosis, Dystonia, Aggressive behavior, Gait disturbance, Abnormal motor evoked potentials, ... ORPHA:909
Cockayne Syndrome Type 1
Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Absent brainstem audi... ORPHA:90321
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia, Cognit... ORPHA:330015
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic... ORPHA:98791
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Ataxia OMIM:619260
Acquired Methemoglobinemia
Methemoglobinemia, Anxiety ORPHA:464453
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Syndromic Diarrhea
Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly ORPHA:84064
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Infantile Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Psychomotor... ORPHA:206436
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Lethargy, Increased mean corpuscular volume ORPHA:97214
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Increased mean platelet volume, Thrombocytopenia, Hearing impa... ORPHA:487796
Cockayne Syndrome A
Dementia, Decreased nerve conduction velocity, Gait disturbance, Abnormality of the pinna, Ataxia... OMIM:216400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Ataxia, Abnormal autono... OMIM:609136
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aganglionic megacolon, Sensorineural hearing impairment, Anemia, Optic a... ORPHA:847
Cockayne Syndrome B
Osteoporosis, Decreased nerve conduction velocity, Abnormality of the pinna, Ataxia, Sensorineura... OMIM:133540
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Microtia OMIM:141750
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Posteriorly rotated ears, Sensorineural hearing impairment, HbH he... OMIM:301040
Mend Syndrome
Abnormal auditory evoked potentials, Aggressive behavior, Hyperactivity ORPHA:401973
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Papilledema, Normochromic anemia, Normocytic anemia ORPHA:91500
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ppp2r5e

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ppp2r5e.

No publications found that use IMPC mice or data for Ppp2r5e.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ppp2r5etm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp2r5eem1(IMPC)Marc Exdel Mice

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